Catalog

Epilepsy with GLUT1 deficiency with SLC2A1 mutations

No MMS code

Link to WHO Definition

Epilepsy with GLUT1 deficiency with SLC2A1 mutations – http://id.who.int/icd/entity/787741184

Epilepsy characterised by the variable association of mental retardation, acquired microcephaly, complex motor disorders, and paroxysmal manifestations including seizures and non-epileptic paroxysmal episodes. Clinical severity varies from mild motor dysfunction to severe neurological disability. In patients with mild phenotypes, paroxysmal manifestations may be the sole manifestations of the disease. Low CSF level of glucose, relative to blood level, is the best biochemical clue to the diagnosis although not constantly found.